Variant report

Variant	rs4628
Chromosome Location	chr1:56961756-56961757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10789022	0.81[ASN][1000 genomes]
rs10888973	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10888974	0.84[ASN][1000 genomes]
rs11206820	0.83[ASN][1000 genomes]
rs11206822	0.84[ASN][1000 genomes]
rs11206826	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11206828	0.88[ASN][1000 genomes]
rs11206833	0.92[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1134183	0.87[ASN][1000 genomes]
rs11811433	0.86[ASN][1000 genomes]
rs12128107	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12755498	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12755655	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1930762	0.89[CEU][hapmap]
rs2780866	0.81[AMR][1000 genomes]
rs2780867	0.84[ASN][1000 genomes]
rs4532850	0.89[CEU][hapmap]
rs4554741	0.86[ASN][1000 genomes]
rs4638151	0.86[ASN][1000 genomes]
rs4912303	0.85[ASN][1000 genomes]
rs6588636	0.85[ASN][1000 genomes]
rs6588637	0.86[ASN][1000 genomes]
rs6664934	0.88[ASN][1000 genomes]
rs6676745	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6682210	0.83[AFR][1000 genomes]
rs7516563	0.84[ASN][1000 genomes]
rs7522127	0.81[AMR][1000 genomes]
rs7532239	0.88[ASN][1000 genomes]
rs7536157	0.84[ASN][1000 genomes]
rs7539463	0.82[AMR][1000 genomes]
rs7556056	0.89[CEU][hapmap]
rs993075	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4628	ACOT11	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:56957200-56962400	Genic enhancers	Placenta	Placenta
3	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
4	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:56957800-56963800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:56957800-56963800	Weak transcription	Small Intestine	intestine
8	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
10	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:56958200-56963000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:56958200-56963400	Strong transcription	Fetal Muscle Leg	muscle
14	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:56958400-56968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:56958600-56962800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr1:56958600-56968000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56958800-56964000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:56959000-56966200	Strong transcription	HSMM	muscle
21	chr1:56959200-56962200	Strong transcription	Adipose Nuclei	Adipose
22	chr1:56959200-56962600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:56959200-56962600	Strong transcription	Colon Smooth Muscle	Colon
24	chr1:56959200-56962800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:56959200-56968000	Strong transcription	Osteobl	bone
26	chr1:56959200-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:56959200-56969000	Genic enhancers	Liver	Liver
28	chr1:56959400-56962000	Strong transcription	Brain Hippocampus Middle	brain
29	chr1:56959400-56962000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr1:56959400-56962400	Strong transcription	Ovary	ovary
31	chr1:56959400-56962600	Strong transcription	Aorta	Aorta
32	chr1:56959400-56963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
34	chr1:56959600-56961800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:56959600-56962400	Strong transcription	HSMMtube	muscle
36	chr1:56959600-56963400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:56959600-56963600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:56959600-56967200	Weak transcription	Fetal Brain Male	brain
39	chr1:56959800-56962200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:56959800-56962600	Strong transcription	Fetal Thymus	thymus
41	chr1:56959800-56962800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:56959800-56963600	Strong transcription	NHLF	lung
43	chr1:56959800-56972800	Weak transcription	Dnd41	blood
44	chr1:56960000-56962400	Strong transcription	Esophagus	oesophagus
45	chr1:56960000-56962400	Strong transcription	Pancreas	Pancrea
46	chr1:56960000-56962600	Genic enhancers	Left Ventricle	heart
47	chr1:56960000-56964200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:56960400-56961800	Weak transcription	Stomach Mucosa	stomach
49	chr1:56960400-56967200	Weak transcription	K562	blood
50	chr1:56960800-56961800	Strong transcription	Colonic Mucosa	Colon

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